Retinal changes in mucopolysaccharidosis I- A case report
Journal Title: IP International Journal of Ocular Oncology and Oculoplasty - Year 2018, Vol 4, Issue 1
Abstract
Introduction Mucopolysaccharidosis 1 Hurlerrsquos disease MPS is a rare life threatening autosomal recessive inborn error of lysosomal metabolism which is known to have ocular manifestationsAim To identify and document retinal findings in a case of mucopolysaccharidosis type 1Subjects and Methods A male child 12 years old born out of consanguinity was referred to Ophthalmology OPD Goa Medical College with decreased vision for evaluation He underwent a detailed ophthalmological examinationResults Fundus showednbsp pseudopapillitis with retinal pigment epithelium changes and hypopigmented lesions in the parafoveal region OCT revealed increased retinal thickness with accumulation of GAGs in outer retinal layers ILMRPE central subfield thickness 281micromConclusions Patients with MPS require regular ophthalmological assessment to diagnose monitor and treat ocular complications Ophthalmological assessment becomes important because signs of raised intracranial pressure such as papilledema may be picked up Regular ophthalmological assessments may help to provide a better quality of life in these childrenKeywords Fundus Mucopolysaccharidosis Retinanbsp
Authors and Affiliations
Vishaka D. Naik, Ugam P. S. Usgaonkar, Vedvati. H. Albal
Keywords
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- EP ID EP513403
- DOI 10.18231/2455-8478.2018.0019
- Views 81
- Downloads 0
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